Identification of a novel mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency

A novel mutation was identified in two unrelated patients with medium-chain acyl-CoA dehydrogenase deficiency. First, a 19-year-old Caucasian female presented with a devastating illness, resulting in sudden death in adulthood which is unusual. The second patient, now a 3.5-year-old male, presented at 17 months of age with a hypoglycemic seizure and dehydration. Sequence analysis revealed a novel mutation G617T in exon 8 resulting in an arginine to leucine substitution at codon 206 (R206L). Both patients were compound heterozygous for this G617T and the common mutation A985G.     

Retrograde access via the popliteal artery to facilitate the re‐entry technique for recalcitrant superficial femoral artery Chronic total occlusions

Subintimal recanalization is beneficial in selected patients with peripheral chronic total occlusions (CTO). However, in complex cases, re‐entry into the true arterial lumen may prove to be unsuccessful with a conventional guidewire or a re‐entry catheter when using standard femoral artery access. Our case series describes these technical dilemmas along with strategies that can be utilized to overcome these challenges. © 2011 Wiley‐Liss, Inc.     

Contemporary Controversies in Digoxin Use in Systolic Heart Failure

Digoxin remains one of the oldest therapies for heart failure; however, its safety and efficacy have been controversial since its initial use. Questions that remain include the clinical efficacy of digoxin when added to contemporary medical therapy, when and if it should be added, and how to minimize adverse effects. In this review, we will summarize recent data on the use of digoxin in systolic heart failure and address some of the controversies regarding the role of digoxin in the modern era of heart failure treatment.